Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995548 | SCV001149778 | pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 2019-08-07 | criteria provided, single submitter | clinical testing |